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43 results on '"Chitty, Lyn S."'

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4. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

6. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

7. An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol

9. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

10. Preferences for coordinated care for rare diseases: discrete choice experiment.

12. ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

13. Monogenic conditions and central nervous system anomalies:A prospective study, systematic review and meta-analysis

15. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis

17. Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.

18. Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

21. Benefits for children with suspected cancer from routine whole-genome sequencing

22. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally

25. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]

28. Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey

29. Factors that impact on women's decision-making around prenatal genomic tests:An international discrete choice survey

31. Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey

33. Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study

34. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

35. Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study

38. International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.

39. What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing.

40. Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals.

42. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

43. Living with osteogenesis imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals.

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